Allele Registry

Canonical Allele Identifier: PA106453

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9659

Score 0.811

Score 0.6889

Score 0.8728

Score 0.9183

Score 0.5394

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001382824

RCV002476918

RCV003460410

ClinVar Variation:

3519

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg157Gln	CA278053 NM_005957.5:c.470G>A